Incidental Mutation 'R2443:Cfap91'
ID |
249888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap91
|
Ensembl Gene |
ENSMUSG00000022805 |
Gene Name |
cilia and flagella associated protein 91 |
Synonyms |
4932425I24Rik, Spata26, Maats1 |
MMRRC Submission |
040401-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2443 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38123094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 645
(Y645H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
|
AlphaFold |
Q8BRC6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023501
AA Change: Y645H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023501 Gene: ENSMUSG00000022805 AA Change: Y645H
Domain | Start | End | E-Value | Type |
Pfam:PaaSYMP
|
190 |
342 |
1.4e-65 |
PFAM |
low complexity region
|
413 |
428 |
N/A |
INTRINSIC |
low complexity region
|
513 |
526 |
N/A |
INTRINSIC |
low complexity region
|
599 |
613 |
N/A |
INTRINSIC |
coiled coil region
|
650 |
682 |
N/A |
INTRINSIC |
coiled coil region
|
737 |
763 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133496
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc13 |
C |
T |
9: 102,511,222 (GRCm39) |
P37S |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,544,596 (GRCm39) |
D39E |
probably benign |
Het |
Clec4d |
G |
A |
6: 123,245,076 (GRCm39) |
V119M |
probably benign |
Het |
Dennd11 |
T |
C |
6: 40,383,710 (GRCm39) |
D444G |
probably damaging |
Het |
Dlx2 |
A |
G |
2: 71,376,349 (GRCm39) |
S130P |
probably benign |
Het |
Dync2li1 |
C |
A |
17: 84,955,093 (GRCm39) |
Q251K |
probably benign |
Het |
Edem1 |
A |
T |
6: 108,828,230 (GRCm39) |
K518N |
probably benign |
Het |
Elapor1 |
A |
T |
3: 108,388,665 (GRCm39) |
N239K |
probably damaging |
Het |
Fbln2 |
T |
C |
6: 91,236,693 (GRCm39) |
V736A |
probably damaging |
Het |
Fga |
A |
G |
3: 82,935,848 (GRCm39) |
K25R |
probably benign |
Het |
Hmcn1 |
C |
A |
1: 150,474,783 (GRCm39) |
R4701S |
probably benign |
Het |
Ighv8-5 |
G |
A |
12: 115,031,440 (GRCm39) |
P33L |
probably damaging |
Het |
Kcnip3 |
T |
A |
2: 127,301,983 (GRCm39) |
I194F |
probably damaging |
Het |
Kif26b |
A |
C |
1: 178,742,579 (GRCm39) |
I892L |
probably damaging |
Het |
Krt78 |
C |
T |
15: 101,855,033 (GRCm39) |
G926E |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,566,919 (GRCm39) |
Y1934C |
unknown |
Het |
Masp1 |
A |
T |
16: 23,295,062 (GRCm39) |
Y400N |
probably damaging |
Het |
Methig1 |
T |
C |
15: 100,251,092 (GRCm39) |
M1T |
probably null |
Het |
Mmp19 |
A |
G |
10: 128,634,725 (GRCm39) |
E447G |
possibly damaging |
Het |
Ms4a6d |
G |
A |
19: 11,567,557 (GRCm39) |
H115Y |
possibly damaging |
Het |
Myo1e |
C |
T |
9: 70,234,454 (GRCm39) |
S269L |
probably benign |
Het |
Myo7a |
G |
A |
7: 97,744,976 (GRCm39) |
T288I |
probably benign |
Het |
Npy5r |
T |
A |
8: 67,133,942 (GRCm39) |
K284* |
probably null |
Het |
Oas3 |
C |
A |
5: 120,915,553 (GRCm39) |
R46L |
probably benign |
Het |
Or5l14 |
A |
T |
2: 87,793,209 (GRCm39) |
V9E |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,447 (GRCm39) |
S431T |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,037,982 (GRCm39) |
V184A |
possibly damaging |
Het |
Pomt2 |
C |
A |
12: 87,180,154 (GRCm39) |
K282N |
probably damaging |
Het |
Psmd12 |
T |
A |
11: 107,386,563 (GRCm39) |
M378K |
probably damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,674,618 (GRCm39) |
Y389N |
probably damaging |
Het |
Tdrd1 |
C |
T |
19: 56,829,786 (GRCm39) |
A220V |
probably null |
Het |
Tecpr2 |
T |
G |
12: 110,862,759 (GRCm39) |
L57R |
probably damaging |
Het |
Tkfc |
A |
G |
19: 10,571,902 (GRCm39) |
L378P |
probably damaging |
Het |
Tmprss2 |
T |
G |
16: 97,369,703 (GRCm39) |
D357A |
possibly damaging |
Het |
Tollip |
C |
T |
7: 141,444,560 (GRCm39) |
W64* |
probably null |
Het |
Vcan |
A |
G |
13: 89,852,794 (GRCm39) |
F722S |
probably damaging |
Het |
Vcp |
A |
T |
4: 42,983,385 (GRCm39) |
N558K |
probably damaging |
Het |
Vmn1r232 |
A |
G |
17: 21,133,646 (GRCm39) |
I318T |
probably damaging |
Het |
Vmn1r33 |
A |
T |
6: 66,588,957 (GRCm39) |
I199K |
possibly damaging |
Het |
Zfp61 |
A |
G |
7: 23,991,194 (GRCm39) |
V319A |
probably benign |
Het |
Zfyve28 |
A |
G |
5: 34,374,238 (GRCm39) |
V592A |
possibly damaging |
Het |
|
Other mutations in Cfap91 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Cfap91
|
APN |
16 |
38,156,704 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02243:Cfap91
|
APN |
16 |
38,162,142 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02377:Cfap91
|
APN |
16 |
38,153,181 (GRCm39) |
splice site |
probably benign |
|
IGL02604:Cfap91
|
APN |
16 |
38,141,921 (GRCm39) |
unclassified |
probably benign |
|
IGL02623:Cfap91
|
APN |
16 |
38,154,140 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02985:Cfap91
|
APN |
16 |
38,118,634 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03389:Cfap91
|
APN |
16 |
38,144,498 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4280001:Cfap91
|
UTSW |
16 |
38,153,135 (GRCm39) |
missense |
probably benign |
0.23 |
PIT4449001:Cfap91
|
UTSW |
16 |
38,148,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R0076:Cfap91
|
UTSW |
16 |
38,123,046 (GRCm39) |
nonsense |
probably null |
|
R0076:Cfap91
|
UTSW |
16 |
38,123,046 (GRCm39) |
nonsense |
probably null |
|
R0360:Cfap91
|
UTSW |
16 |
38,118,659 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0501:Cfap91
|
UTSW |
16 |
38,155,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Cfap91
|
UTSW |
16 |
38,148,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R0743:Cfap91
|
UTSW |
16 |
38,155,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R0900:Cfap91
|
UTSW |
16 |
38,156,764 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1218:Cfap91
|
UTSW |
16 |
38,118,495 (GRCm39) |
missense |
probably benign |
|
R1499:Cfap91
|
UTSW |
16 |
38,141,762 (GRCm39) |
missense |
probably damaging |
0.96 |
R1693:Cfap91
|
UTSW |
16 |
38,162,085 (GRCm39) |
missense |
probably benign |
|
R1793:Cfap91
|
UTSW |
16 |
38,141,781 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1854:Cfap91
|
UTSW |
16 |
38,144,659 (GRCm39) |
splice site |
probably null |
|
R2007:Cfap91
|
UTSW |
16 |
38,118,616 (GRCm39) |
missense |
probably benign |
0.02 |
R2126:Cfap91
|
UTSW |
16 |
38,162,124 (GRCm39) |
missense |
probably benign |
0.19 |
R2857:Cfap91
|
UTSW |
16 |
38,123,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Cfap91
|
UTSW |
16 |
38,131,400 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3441:Cfap91
|
UTSW |
16 |
38,154,168 (GRCm39) |
missense |
probably benign |
0.03 |
R3442:Cfap91
|
UTSW |
16 |
38,154,168 (GRCm39) |
missense |
probably benign |
0.03 |
R4056:Cfap91
|
UTSW |
16 |
38,118,576 (GRCm39) |
missense |
probably benign |
|
R4057:Cfap91
|
UTSW |
16 |
38,118,576 (GRCm39) |
missense |
probably benign |
|
R4424:Cfap91
|
UTSW |
16 |
38,140,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R4493:Cfap91
|
UTSW |
16 |
38,162,130 (GRCm39) |
missense |
probably benign |
0.00 |
R4546:Cfap91
|
UTSW |
16 |
38,155,885 (GRCm39) |
missense |
probably benign |
0.11 |
R5177:Cfap91
|
UTSW |
16 |
38,152,683 (GRCm39) |
missense |
probably benign |
0.00 |
R5496:Cfap91
|
UTSW |
16 |
38,141,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R5868:Cfap91
|
UTSW |
16 |
38,152,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944:Cfap91
|
UTSW |
16 |
38,148,672 (GRCm39) |
missense |
probably damaging |
0.97 |
R6165:Cfap91
|
UTSW |
16 |
38,154,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6521:Cfap91
|
UTSW |
16 |
38,127,121 (GRCm39) |
missense |
probably benign |
0.06 |
R6804:Cfap91
|
UTSW |
16 |
38,152,604 (GRCm39) |
missense |
probably damaging |
0.97 |
R7086:Cfap91
|
UTSW |
16 |
38,127,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7202:Cfap91
|
UTSW |
16 |
38,155,959 (GRCm39) |
missense |
probably benign |
0.00 |
R7271:Cfap91
|
UTSW |
16 |
38,148,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7325:Cfap91
|
UTSW |
16 |
38,141,963 (GRCm39) |
splice site |
probably null |
|
R7375:Cfap91
|
UTSW |
16 |
38,155,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R7453:Cfap91
|
UTSW |
16 |
38,141,841 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7604:Cfap91
|
UTSW |
16 |
38,118,598 (GRCm39) |
nonsense |
probably null |
|
R8040:Cfap91
|
UTSW |
16 |
38,140,733 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8702:Cfap91
|
UTSW |
16 |
38,152,674 (GRCm39) |
missense |
probably benign |
0.00 |
R9012:Cfap91
|
UTSW |
16 |
38,122,335 (GRCm39) |
missense |
probably damaging |
0.98 |
R9164:Cfap91
|
UTSW |
16 |
38,155,960 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9566:Cfap91
|
UTSW |
16 |
38,155,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R9749:Cfap91
|
UTSW |
16 |
38,128,487 (GRCm39) |
missense |
probably damaging |
0.99 |
X0062:Cfap91
|
UTSW |
16 |
38,118,461 (GRCm39) |
missense |
possibly damaging |
0.70 |
X0067:Cfap91
|
UTSW |
16 |
38,127,222 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- AACATGGCTTGCAGACTGTTG -3'
(R):5'- CAGCCCCGAGTTTATGTCTC -3'
Sequencing Primer
(F):5'- CTGAATAACAGTGGCTACGACGTC -3'
(R):5'- TATGTCTCGTGCCTGGGCC -3'
|
Posted On |
2014-11-12 |